Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036515 | SCV000060170 | benign | not specified | 2019-03-05 | criteria provided, single submitter | clinical testing | The p.Asn324Tyr variant in SLC26A4 is classified as benign because it has been identified in 3.4% (847/24956) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org/). ACMG/AMP criteria applied: BA1. |
Counsyl | RCV000169079 | SCV000220250 | likely benign | Pendred syndrome | 2014-04-26 | criteria provided, single submitter | literature only | |
Eurofins Ntd Llc |
RCV000036515 | SCV000343807 | benign | not specified | 2016-08-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000906722 | SCV001051380 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000169079 | SCV001326842 | benign | Pendred syndrome | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Illumina Laboratory Services, |
RCV001004632 | SCV001326843 | benign | Autosomal recessive nonsyndromic hearing loss 4 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Gene |
RCV000906722 | SCV001840562 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 31599023, 27771369, 30245029, 26485571, 14679580, 24224479, 20981092, 25262649) |
Fulgent Genetics, |
RCV002496567 | SCV002808280 | likely benign | Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome | 2022-02-18 | criteria provided, single submitter | clinical testing | |
National Institute of Sensory Organs, |
RCV001004632 | SCV000994877 | other | Autosomal recessive nonsyndromic hearing loss 4 | 2019-08-20 | no assertion criteria provided | literature only | Benign effect in vitro experiment |
Natera, |
RCV000169079 | SCV001459864 | benign | Pendred syndrome | 2020-01-10 | no assertion criteria provided | clinical testing | |
Clinical Genetics, |
RCV000906722 | SCV001919006 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000036515 | SCV001956137 | benign | not specified | no assertion criteria provided | clinical testing |